Canonical Allele Identifier: CA2147700

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 1500473
• ClinVar RCV Id: RCV002015675
• dbSNP Id: rs374158562
• ExAC: 2:228176555 G / A
• gnomAD v2: 2-228176555-G-A
• gnomAD v3: 2-227311839-G-A
• gnomAD v4: 2-227311839-G-A
• MyVariant Identifiers: chr2:g.228176555G>A (hg19) ; chr2:g.227311839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311839G>A , CM000664.2:g.227311839G>A	GRCh38
NC_000002.11:g.228176555G>A , CM000664.1:g.228176555G>A	GRCh37
NC_000002.10:g.227884799G>A	NCBI36
NG_011591.1:g.152275G>A , LRG_230:g.152275G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2240G>A (COL4A3)
ENST00000682257.1:n.204G>A (COL4A3)
ENST00000682970.1:n.280G>A (COL4A3)
ENST00000683077.1:n.1921G>A (COL4A3)
ENST00000684413.1:n.2549G>A (COL4A3)
ENST00000684724.1:n.403G>A (COL4A3)
ENST00000396578.8:c.4982G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1661His
ENST00000469504.2:c.775G>A (COL4A3)	ENSP00000493493.1:n.775G>A
ENST00000643388.1:c.495G>A (COL4A3)	ENSP00000495177.1:p.Ser165=
ENST00000396578.7:c.4982G>A (COL4A3)	ENSP00000379823.3:p.Arg1661His
ENST00000469504.1:n.490G>A (COL4A3)
NM_000091.4:c.4982G>A , LRG_230t1:c.4982G>A (COL4A3)	NP_000082.2:p.Arg1661His
NR_102371.1:n.48-6184C>T (MFF-DT)
XM_005246276.2:c.4809G>A (COL4A3)	XP_005246333.1:p.Ser1603=
XM_005246277.2:c.4877G>A (COL4A3)	XP_005246334.1:p.Arg1626His
XM_011510556.1:c.3743G>A (COL4A3)	XP_011508858.1:p.Arg1248His
XR_241280.2:n.4942G>A (COL4A3)
XM_005246277.3:c.4877G>A (COL4A3)	XP_005246334.1:p.Arg1626His
XM_011510556.2:c.3743G>A (COL4A3)	XP_011508858.1:p.Arg1248His
XR_241280.3:n.4942G>A (COL4A3)
NM_000091.5:c.4982G>A (COL4A3) MANE Select	NP_000082.2:p.Arg1661His